608716.2.1

Country

United Arab Emirates

HPO Terms

Microcephaly; Posterior vitreous detachment; Retinal detachment
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Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_018136.5:c.3067T>G2

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
608716.2.2United Arab EmiratesMicrocephaly;YesYesSibling of 608716.2.1
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